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Recombinant proteins in the diagnosis of toxoplasmosis

Kotresha D, Noordin R

APMIS, 2010 Aug;118(8):529-42.
PMID: 20666734 DOI: 10.1111/j.1600-0463.2010.02629.x

Toxoplasma gondii is an important human pathogen with a worldwide distribution. It is primarily of medical importance for pregnant women and immunocompromised patients. Primary infection of the former is often associated with fetal infection, which can lead to abortion or severe neonatal malformation. Immunocompromised patients are at risk of contracting the severe form of the disease that may be fatal. Thus, detection of T. gondii infection with high sensitivity and specificity is crucial in the management of the disease. Toxoplasmosis is generally diagnosed by demonstrating specific immunoglobulin M (IgM) and IgG antibodies to toxoplasma antigens in the patient's serum sample. Most of the commercially available tests use T. gondii native antigens and display wide variations in test accuracy. Recombinant antigens have great potential as diagnostic reagents for use in assays to detect toxoplasmosis. Thus in this review, we address recent advances in the use of Toxoplasma recombinant proteins for serodiagnosis of toxoplasmosis.

Matched MeSH terms: Toxoplasmosis, Congenital/diagnosis
A Case of Paraganglioma with Cyanotic Congenital Heart Disease

Wahab NA, Chien BH, Omar MR, Aziz AA, Mustafa N, Sukor N, et al.

Acta Med Indones, 2021 Jan;53(1):77-81.
PMID: 33818409

Co-occurrence of cyanotic congenital heart disease (CCHD) and phaeochromocytoma (PCC) and paraganglioma (PGL) are rare, although some cases have been reported. We report a case of left paraganglioma in a 20-year-old lady with an underlying CCHD who underwent palliative Glenn shunt, subsequently developed polycythaemia and cavernous sinus thrombosis presented with palpitation, sweating, headache and hypertension of 3-months duration at the age of 17. The abdominal CT scan revealed an enhancing left paraaortic mass measuring 5.2 cm x 4.4 cm x 3.8 cm. A 24-hour urine catecholamine demonstrated raised noradrenaline level to six times upper limit of normal and hence diagnosis of left sympathetic (sPGL) was made. In view of the delayed diagnosis and significant morbidity associated with her condition, surgical treatment is no longer an option. Therefore, vigilant screening and early treatment of PCC-PGL in patients with CCHD are crucial in order to avoid significant morbidity and ensure a good quality of life.

Matched MeSH terms: Heart Defects, Congenital
Chondrogenesis of human adipose derived stem cells for future microtia repair using co-culture technique

Goh BS, Che Omar SN, Ubaidah MA, Saim L, Sulaiman S, Chua KH

Acta Otolaryngol, 2017 Apr;137(4):432-441.
PMID: 27900891 DOI: 10.1080/00016489.2016.1257151

CONCLUSION: In conclusion, these result showed HADSCs could differentiate into chondrocytes-like cells, dependent on signaling induced by TGF-β3 and chondrocytes. This is a promising result and showed that HADSCs is a potential source for future microtia repair. The technique of co-culture is a positive way forward to assist the microtia tissue.
OBJECTIVE: Reconstructive surgery for the repair of microtia still remains the greatest challenge among the surgeons. Its repair is associated with donor-site morbidity and the degree of infection is inevitable when using alloplastic prosthesis with uncertain long-term durability. Thus, human adipose derived stem cells (HADSCs) can be an alternative cell source for cartilage regeneration. This study aims to evaluate the chondrogenic potential of HADSCs cultured with transforming growth factor-beta (TGF-β) and interaction of auricular chondrocytes with HADSCs for new cartilage generation.
METHODS: Multi-lineages differentiation features of HADSCs were monitored by Alcian Blue, Alizarin Red, and Oil Red O staining for chondrogenic, adipogenic, and osteogenic differentiation capacity, respectively. Further, HADSCs alone were culture in medium added with TGF-β3; and human auricular chondrocytes were interacted indirectly in the culture with and without TGF-βs for up to 21 days, respectively. Cell morphology and chondrogenesis were monitored by inverted microscope. For cell viability, Alamar Blue assay was used to measure the cell viability and the changes in gene expression of auricular chondrocyte markers were determined by real-time polymerase chain reaction analysis. For the induction of chondrogenic differentiation, HADSCs showed a feature of aggregation and formed a dense matrix of proteoglycans. Staining results from Alizirin Red and Oil Red O indicated the HADSCs also successfully differentiated into adipogenic and osteogenic lineages after 21 days.
RESULTS: According to a previous study, HADSCs were strongly positive for the mesenchymal markers CD90, CD73, CD44, CD9, and histocompatibility antigen. The results showed HADSCs test groups (cultured with TGF-β3) displayed chondrocytes-like cells morphology with typical lacunae structure compared to the control group without TGF-β3 after 2 weeks. Additionally, the HADSCs test groups increased in cell viability; an increase in expression of chondrocytes-specific genes (collagen type II, aggrecan core protein, SOX 9 and elastin) compared to the control. This study found that human auricular chondrocytes cells and growth factor had a positive influence in inducing HADSCs chondrogenic effects, in terms of chondrogenic differentiate of feature, increase of cell viability, and up-regulated expression of chondrogenic genes.

Matched MeSH terms: Congenital Microtia/surgery
Fulltext Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D

Shmukler BE, Kedar PS, Warang P, Desai M, Madkaikar M, Ghosh K, et al.

Am J Hematol, 2010 Oct;85(10):824-8.
PMID: 20799361 DOI: 10.1002/ajh.21836

Familial distal renal tubular acidosis (dRTA) can be caused by mutations in the Cl2/HCO32 exchanger of the renal Type A intercalated cell, kidney AE1/SLC4A1. dRTA-associated AE1 mutations have been reported in families from North America, Europe, Thailand, Malaysia, Papua-New Guinea, Taiwan, and the Philippines, but not India. The dRTA mutation AE1 A858D has been detected only in the context of compound heterozygosity. We report here two unrelated Indian patients with combined hemolytic anemia and dRTA who share homozygous A858D mutations of the AE1/SLC4A1 gene. The mutation creates a novel restriction site that is validated for diagnostic screening.

Matched MeSH terms: Anemia, Hemolytic, Congenital/complications; Anemia, Hemolytic, Congenital/genetics*
Fulltext 22q11.2 deletion syndrome in diverse populations

Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, et al.

Am J Med Genet A, 2017 Apr;173(4):879-888.
PMID: 28328118 DOI: 10.1002/ajmg.a.38199

22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P

Matched MeSH terms: Heart Defects, Congenital/diagnosis*; Heart Defects, Congenital/ethnology; Heart Defects, Congenital/genetics; Heart Defects, Congenital/pathology
Optic disc swelling in acromicric and geleophysic dysplasia

Moey LH, Flaherty M, Zankl A

Am J Med Genet A, 2019 09;179(9):1898-1901.
PMID: 31228225 DOI: 10.1002/ajmg.a.61268
Matched MeSH terms: Limb Deformities, Congenital/drug therapy*; Limb Deformities, Congenital/genetics; Limb Deformities, Congenital/pathology
Fulltext ECMO in children post cardiac surgery-opportunity for redress

Alwi M

Anatol J Cardiol, 2017 12;18(6):431-432.
PMID: 29256879 DOI: 10.14744/AnatolJCardiol.2017.26116
Matched MeSH terms: Heart Defects, Congenital*
Anatomical variants of the superficial temporal artery in patients with microtia: a pilot descriptive study

Imran FH, Yong CK, Das S, Huei YL

Anat Cell Biol, 2016 Dec;49(4):273-280.
PMID: 28127502 DOI: 10.5115/acb.2016.49.4.273

Superficial temporal artery (STA) based pedicled fascial flap plays a pivotal role in ear reconstruction for microtia patients. There is paucity of literature on the anatomy of the STA in microtia patients. The present study aimed to describe any possible anatomical variations seen in the STA of patients afflicted with microtia. Pre-operative carotid computer tomographic angiography images of patients under the microtia database of Plastic and Reconstructive Surgery Unit at a tertiary medical centre were selected and 3-dimensionally reconstructed. Measurements were made on the 3D reconstructed computed tomographic angiography images of the STA on both the sides of the microtic ear and the non-microtic ear to assess its various anatomical parameters. We managed to obtain a total of 39 computed tomographic angiography images of STAs for analysis. There was a significant difference in the number of main branches of STA between the two groups (P=0.006). The proportion of ears with 2 main branches was higher in the non-microtia group (89.5%) compared to the microtia group (45.0%). A significant difference was found in the STA diameter between the two groups (P=0.012). The mean diameter of STA in the non-microtia group was larger by 0.4 mm. Furthermore, the median angle of STA was larger on the side of the non-microtic ears compared to that of microtic ears by 24.5°, with a P-value of 0.011. The results of the study may be of clinical importance while planning and performing ear reconstructive surgeries using STA based pedicled fascial flaps.

Matched MeSH terms: Congenital Microtia
A population-based study of birth defects in Malaysia

Thong MK, Ho JJ, Khatijah NN

Ann Hum Biol, 2005 Mar-Apr;32(2):180-7.
PMID: 16096215 DOI: 10.1080/03014460500075332

Birth defects are one of the leading causes of paediatric disability and mortality in developed and developing countries. Data on birth defects from population-based studies originating from developing countries are lacking. One of the objectives of this study was to determine the epidemiology of major birth defects in births during the perinatal period in Kinta district, Perak, Malaysia over a 14-month period, using a population-based birth defect register. There were 253 babies with major birth defects in 17,720 births, giving an incidence of 14.3/1000 births, a birth prevalence of 1 in 70. There were 80 babies with multiple birth defects and 173 with isolated birth defects. The exact syndromic diagnosis of the babies with multiple birth defects could not be identified in 18 (22.5%) babies. The main organ systems involved in the isolated birth defects were cardiovascular (13.8%), cleft lip and palate (11.9%), clubfeet (9.1%), central nervous system (CNS) (including neural tube defects) (7.9%), musculoskeletal (5.5%) and gastrointestinal systems (4.7%), and hydrops fetalis (4.3%). The babies with major birth defects were associated with lower birth weights, premature deliveries, higher Caesarean section rates, prolonged hospitalization and increased specialist care. Among the cohort of babies with major birth defects, the mortality rate was 25.2% during the perinatal period. Mothers with affected babies were associated with advanced maternal age, birth defects themselves or their relatives but not in their other offspring, and significantly higher rates of previous abortions. The consanguinity rate of 2.4% was twice that of the control population. It is concluded that a birth defects register is needed to monitor these developments and future interventional trials are needed to reduce birth defects in Malaysia.

Matched MeSH terms: Congenital Abnormalities/epidemiology*
Endemic goiter in Southeast Asia. New clothes on an old body

Ramalingaswami V

Ann Intern Med, 1973 Feb;78(2):277-83.
PMID: 4265088
Matched MeSH terms: Congenital Hypothyroidism/etiology
Fulltext Cor triatriatum dexter: A rare cause of childhood cyanosis

Zainudin AR, Tiong KG, Mokhtar SA

Ann Pediatr Cardiol, 2012 Jan;5(1):92-4.
PMID: 22529613 DOI: 10.4103/0974-2069.93725

Cor triatriatum dexter is a rare congenital heart anomaly where the right atrium is divided into two chambers by a membrane. We report a boy who had persistent mild cyanosis and diagnosed to have cor triatriatum dexter with secundum atrial septal defect by transoesophageal echocardiography. Interestingly, he had persistent mild cyanosis despite insignificant obstruction to the right ventricular inflow and normal pulmonary artery pressure. The pathophysiology, approach to the diagnosis, and mode of treatment are also discussed.

Matched MeSH terms: Heart Defects, Congenital
Fulltext Stenting the ductus arteriosus: Case selection, technique and possible complications

Alwi M

Ann Pediatr Cardiol, 2008 Jan;1(1):38-45.
PMID: 20300236 DOI: 10.4103/0974-2069.41054

Ductal stenting is an attractive alternative to conventional shunt surgery in duct dependent congenital heart disease as it avoids thoracotomy and its related problems. With today's generation of coronary stents which have better profile, flexibility and trackability, ductal stenting may be achieved safely and with considerably less difficulty than previously described.As in Blalock-Taussig (BT) shunt, ductal stenting is indicated mainly in duct-dependent cyanotic lesions chiefly in the neonatal period. Unlike the Patent ductus arteriosus (PDA) as an isolated lesion, the ductus in cyanotic heart disease has a remarkable morphologic variability. The ductus tends to arise more proximally under the aortic arch, giving rise to a vertical ductus or occasionally it may arise from the subclavian artery. It also tends to be long and sometimes very tortuous, rendering stent implantation technically impossible. The ductus in these patients may also insert onto one of the branch pulmonary arteries with some stenosis at the site of insertion. The ductus in Tetralogy of Fallot with pulmonary atresia (TOF-PA) tend to exhibit these morphologic features and to a lesser degree in transposition of great arteries with ventricular septal defect and pulmonary atresia (TGA-VSD-PA) and the more complex forms of univentricular hearts. In the preliminary angiographic evaluation, it is important to delineate these morphologic features as the basis for case selection.Ductal stenting may be done by the retrograde femoral artery route or the antegrade transvenous route depending on the ductus morphology and the underlying cardiac lesion. The detailed techniques and essential hardware are described. Finally, major potential complications of the procedure are described. Acute stent thrombosis is the most serious and potentially catastrophic. Emergent treatment with thrombolytic therapy and mechanical disruption of thrombus are required. With proper case selection, appropriate technique and the right hardware ductal stenting provides reasonable short-medium term palliation in duct-dependent cyanotic heart disease.

Matched MeSH terms: Heart Defects, Congenital
Fulltext Birth prevalence and late diagnosis of critical congenital heart disease: A population-based study from a middle-income country

Mat Bah MN, Sapian MH, Alias EY

Ann Pediatr Cardiol, 2020 09 17;13(4):320-326.
PMID: 33311920 DOI: 10.4103/apc.APC_35_20

Aims: There are limited data regarding critical congenital heart disease (CCHD) from middle-income countries (MIC). This study aims to determine the birth prevalence, rate of late diagnosis, and influence of timing of diagnosis on the outcome of CCHD.
Setting and Design: Retrospective observational cohort study in the State of Johor, Malaysia.
Subjects and Methods: All infants born between January 2006 and December 2015 with a diagnosis of CCHD, defined as infants with duct-dependent lesions or cyanotic heart disease who may die without early intervention. The late diagnosis was defined as a diagnosis of CCHD after 3 days of age.
Results: Congenital heart disease was diagnosed in 3557 of 531,904 live-born infants and were critical in 668 (18.7%). Of 668, 347 (52%) had duct-dependent pulmonary circulation. The birth prevalence of CCHD was 1.26 (95% confidence interval: 1.16-1.35) per 1000 live births, with no significant increase over time. The median age of diagnosis was 4 days (Q1 1, Q3 26), with 61 (9.1%) detected prenatally, and 342 (51.2%) detected late. The highest rate of late diagnosis was observed in coarctation of the aorta with a rate of 74%. Trend analysis shows a statistically significant reduction of late diagnosis and a significant increase in prenatal detection. However, Cox regression analysis shows the timing of diagnosis does not affect the outcome of CCHD.
Conclusions: Due to limited resources in the MIC, the late diagnosis of CCHD is high but does not affect the outcome. Nevertheless, the timing of diagnosis has improved over time.

Matched MeSH terms: Heart Defects, Congenital
An epidemiological study of developmental dysplasia of the hip in infants in Singapore

Ang KC, Lee EH, Lee PY, Tan KL

Ann Acad Med Singap, 1997 Jul;26(4):456-8.
PMID: 9395810

The incidence of congenital dislocation of the hip (CDH) in Singapore and Malaysia has been reported as being lower than in the West. In our hospital, we have seen an increasing number of congenital hip dislocation as well as dysplastic hips. We undertook a prospective study from December 1989 to December 1994 of 20,000 live births. The neonates were all screened by a consultant neonatologist and the findings were confirmed by a consultant paediatric orthopaedic surgeon. All babies had plain X-rays at 3 months and an acetabular index (AI) of 30 degrees or more was considered dysplastic. All babies with positive signs were followed up for 1 year and again had radiographs taken at 1 year. Comparison of plain X-rays and ultrasound assessment in a subgroup of 130 neonates showed that 64% of patients with AI > 20 degrees had hip dysplasia by ultrasonographic (alpha angle < 60 degrees) The incidence of dysplastic hips was 16.8 per 1000 live births. The overall incidence of neonates with dislocated hips was 4.7 per 1000 live births. The Malays were most affected with an incidence of 5.4 per 1000 live births. The incidence of developmental dysplasia of the hip in Singapore is higher than previously reported, with the Malays having the highest incidence. A significant number of babies with clicking hips have radiological evidence of acetabular dysplasia (AI > 30 degrees). One-third of the babies' hips were still dysplastic at 1 year of age. A well-organised screening programme with experienced examiners has proved to be useful in making early and accurate clinical diagnosis.

Matched MeSH terms: Hip Dislocation, Congenital/diagnosis; Hip Dislocation, Congenital/epidemiology*; Hip Dislocation, Congenital/prevention & control
Congenital limb reduction defects: report of two cases

Malik AS, Ram SP, Seng QB, Noor AR

Ann Acad Med Singap, 1994 Nov;23(6):914-6.
PMID: 7741513

We describe two Malay male term neonates with congenital limb reduction defects. The first neonate had hypodactyly of limbs associated with micrognathia, microstomia, glossopalatine ankylosis and congenital mitral stenosis. He developed gram-negative septicaemia and died on day 14 of life. The second neonate had tetraperomelia without any other associated congenital abnormality. He developed staphylococcal skin infection which was treated conservatively. Very few cases of congenital limb reduction defects have been reported in the Asian population and we are not aware of any other reports describing Malay infants with the congenital abnormalities described in this report.

Matched MeSH terms: Mitral Valve Stenosis/congenital; Limb Deformities, Congenital*
Combined team management of diabetes mellitus in pregnancy

Ng CS, Lim LS, Chng KP, Lim P, Cheah JS, Yeo PP, et al.

Ann Acad Med Singap, 1985 Apr;14(2):297-302.
PMID: 4037689

225 women with diabetes in pregnancy were managed by a team of obstetricians, physicians (endocrinologists) and paediatricians from the National University of Singapore. A protocol of management was formulated and followed. The incidence of 1.1% or 1 in 90 pregnancies was found, with significantly higher incidence in Indians and lower in Malays. There were 37 established diabetics and 188 diagnosed during pregnancy. Of these (188), 74 were gestational diabetics. All the women were treated with Insulin and Diet or Diet alone. 177 (79%) were treated with Insulin and Diet. Blood sugar profiles were done for monitoring diabetic control. 72.8% of the women were between para 0 and 1 and 85.2% between the ages of 20 and 34. 72.5% of the women delivered at 38 weeks gestation or later. 48.9% went into spontaneous labour, 32.4% were induced and 18.7% had elective caesarean section. 62.2% of the women had labour of less than 12 hours. The overall caesarean section rate was 41.7%. There were 3 stillbirths and 2 neonatal deaths. The perinatal mortality rate was 2.2%. Thirteen babies had congenital malformations (5.8%). 77.8% of the babies had Apgar score of 7 or more at 5 minutes after delivery. 79.1% of the babies weighed between 2.5 kgm and 3.9 kgm. Pre-eclamptic toxaemia was the commonest complication in pregnancy followed by Urinary Tract Infection and Polyhydramnios. Postpartum complications in the mother were confined to 14 women (6.2%), and wound infection or breakdown was the commonest cause.

Matched MeSH terms: Congenital Abnormalities/etiology
Severe congenital rickets secondary to maternal hypovitaminosis D: a case report

Maiyegun SO, Malek AH, Devarajan LV, Dahniya MH

Ann Trop Paediatr, 2002 Jun;22(2):191-5.
PMID: 12070957

We report a full-term baby boy who presented soon after birth with severe congenital rickets. Maternal and neonatal vitamin D levels were very low and the infant responded well to oral vitamin D. Transient secondary hyperparathyroidism normalised on treatment. The mother's vitamin D deficiency was attributed to the region's cultural dress code which prevents exposure to sunlight. There has not been a previous report of severe congenital rickets from this region.

Matched MeSH terms: Rickets/congenital*
Ocular abnormalities in children from a Malaysian school for the deaf

Elango S, Reddy TN, Shriwas SR

Ann Trop Paediatr, 1994;14(2):149-52.
PMID: 7521631

The prevalence of ocular abnormalities was studied in 165 children from a Malaysian school for the deaf. Ninety-five children (57.6%) had one or more ocular abnormalities. Rubella retinopathy was the commonest form of ocular abnormality (35.2%). Refractive errors were found in 23 children (13.9%). Refractive errors in the rubella group were significantly more common than in the non-rubella group of deaf children (p < 0.001) (chi 2 test). Thirteen children had congenital anomalies causing significantly impaired vision. Ophthalmological examination of deaf children helps in the detection of cases with rubella eye signs and thus helps to identify the cause of deafness. Since deaf children are at greater risk of visual and ocular abnormalities, periodical ophthalmological examination should be carried out in these children.

Matched MeSH terms: Deafness/congenital; Rubella Syndrome, Congenital/epidemiology
Prevention of mental handicap and developmental disabilities in South East Asia

Sardharwalla IB, Lingam S, Harvey DR

Arch Dis Child, 1988 Jun;63(6):672-3.
PMID: 3389904
Matched MeSH terms: Congenital Abnormalities/diagnosis; Congenital Abnormalities/prevention & control*
Survival outcomes for congenital heart disease from Southern Malaysia: results from a congenital heart disease registry

Mat Bah MN, Kasim AS, Sapian MH, Alias EY

Arch Dis Child, 2024 Apr 18;109(5):363-369.
PMID: 38296612 DOI: 10.1136/archdischild-2023-326622

OBJECTIVE: Limited population-based studies are available on the survival of congenital heart disease (CHD) from lower- and middle-income countries. Therefore, we evaluated the survival from birth until 15 years and associated factors for mortality.
METHODS: This population-based cohort study included all children with CHD registered in the Pediatric Cardiology Clinical Information System born between 2006 and 2020 in Johor, Malaysia. The mortality rate was calculated, and Cox proportional hazard regression analysis was used to determine factors associated with mortality. The Kaplan-Meier analysis was used to estimate the survival rates at 1, 5, 10 and 15 years.
RESULTS: There were 5728 patients with CHD studied, with 1543 (27%) lesions resolved spontaneously, 322 (5.6%) were treated with comfort care, 1189 (21%) required no intervention, and 2674 (47%) needed surgery or intervention. The overall mortality rate was 15%, with a median age of death of 3.7 months (IQR 0.9-9.8 months). Preoperative/intervention death was observed in 300 (11%), and 68 (3.2%) children died within 30 days of surgery or intervention. The overall estimated survival at 1, 5, 10 and 15 years was 88%, 85%, 84% and 83%, respectively. The independent factors associated with mortality were male gender, associated syndrome or extra-cardiac defect, pulmonary hypertension, antenatal diagnosis and severe lesions.
CONCLUSIONS: Eight out of 10 patients with CHDs survived up to 15 years of age. However, 10% of CHDs who require intervention die before the procedure. Thus, improving congenital cardiac surgery and enhancing the overall healthcare system are crucial to improve survival.

Matched MeSH terms: Heart Defects, Congenital*

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